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Volumn 64, Issue 2, 1999, Pages 385-396

Molecular mechanism of Angelman syndrome in two large families involves an imprinting mutation

Author keywords

[No Author keywords available]

Indexed keywords

ADOLESCENT; ARTICLE; CASE REPORT; CHILD; DNA METHYLATION; FEMALE; GENE DELETION; GENETICS; GENOME IMPRINTING; HAPPY PUPPET SYNDROME; HUMAN; MALE; MUTATION; PEDIGREE; POLYMERASE CHAIN REACTION;

EID: 0033070151     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/302232     Document Type: Article
Times cited : (80)

References (42)
  • 2
    • 0023925498 scopus 로고
    • The EEG in early-diagnosis of the Angelman (happy puppet) syndrome
    • Boyd SG, Harden A, Patton MA (1988) The EEG in early-diagnosis of the Angelman (happy puppet) syndrome. Eur J Pediatr 147:508-513
    • (1988) Eur J Pediatr , vol.147 , pp. 508-513
    • Boyd, S.G.1    Harden, A.2    Patton, M.A.3
  • 3
    • 0032231460 scopus 로고    scopus 로고
    • Sporadic imprinting defects in Prader-Willi syndrome and Angelman syndrome: Implications for imprint switch models, genetic counseling, and prenatal diagnosis
    • Buiting K, Dittrich B, Groß S, Lich C, Färber C, Buchholz T, Smith E, et al (1998) Sporadic imprinting defects in Prader-Willi syndrome and Angelman syndrome: implications for imprint switch models, genetic counseling, and prenatal diagnosis. Am J Hum Genet 63:170-180
    • (1998) Am J Hum Genet , vol.63 , pp. 170-180
    • Buiting, K.1    Dittrich, B.2    Groß, S.3    Lich, C.4    Färber, C.5    Buchholz, T.6    Smith, E.7
  • 4
    • 0028939902 scopus 로고
    • Inherited microdeletions in the Angelman and Prader-Willi syndromes define an imprinting center on human chromosome 15
    • Buiting K, Saitoh S, Groß S, Dittrich B, Schwartz S, Nicholls RD, Horsthemke B (1995) Inherited microdeletions in the Angelman and Prader-Willi syndromes define an imprinting center on human chromosome 15. Nat Genet 9:395-400
    • (1995) Nat Genet , vol.9 , pp. 395-400
    • Buiting, K.1    Saitoh, S.2    Groß, S.3    Dittrich, B.4    Schwartz, S.5    Nicholls, R.D.6    Horsthemke, B.7
  • 6
    • 0029868661 scopus 로고    scopus 로고
    • Familial cryptic translocation resulting in Angelman syndrome: Implications for imprinting or location of the Angelman gene?
    • Burke LW, Wiley JE, Glenn CC, Driscoll DJ, Loud KM, Smith AJ, Kushnick T (1996) Familial cryptic translocation resulting in Angelman syndrome: implications for imprinting or location of the Angelman gene? Am J Hum Genet 58: 777-784
    • (1996) Am J Hum Genet , vol.58 , pp. 777-784
    • Burke, L.W.1    Wiley, J.E.2    Glenn, C.C.3    Driscoll, D.J.4    Loud, K.M.5    Smith, A.J.6    Kushnick, T.7
  • 8
    • 0026712218 scopus 로고
    • Further evidence for dominant inheritance at the chromosome 15q11-13 locus in familial Angelman syndrome
    • Clayton-Smith J, Webb T, Robb SA, Dijkstra I, Willems P, Lam S, Cheng X-J, et al (1992) Further evidence for dominant inheritance at the chromosome 15q11-13 locus in familial Angelman syndrome. Am J Med Genet 44:256-260
    • (1992) Am J Med Genet , vol.44 , pp. 256-260
    • Clayton-Smith, J.1    Webb, T.2    Robb, S.A.3    Dijkstra, I.4    Willems, P.5    Lam, S.6    Cheng, X.-J.7
  • 10
    • 0027741188 scopus 로고
    • Characterization of a methylation imprint in the Prader-Willi syndrome chromosome region
    • Dittrich B, Buiting K, Groß S, Horsthemke B (1993) Characterization of a methylation imprint in the Prader-Willi syndrome chromosome region. Hum Mol Genet 2:1995-1999
    • (1993) Hum Mol Genet , vol.2 , pp. 1995-1999
    • Dittrich, B.1    Buiting, K.2    Groß, S.3    Horsthemke, B.4
  • 11
    • 10144234124 scopus 로고    scopus 로고
    • Imprint switching on human chromosome 15 may involve alternative transcripts of the SNRPN gene
    • Dittrich B, Buiting K, Korn B, Poustka A, Drewes T, Ryffel GU, Saitoh S, et al (1996) Imprint switching on human chromosome 15 may involve alternative transcripts of the SNRPN gene. Nat Genet 14:163-170
    • (1996) Nat Genet , vol.14 , pp. 163-170
    • Dittrich, B.1    Buiting, K.2    Korn, B.3    Poustka, A.4    Drewes, T.5    Ryffel, G.U.6    Saitoh, S.7
  • 14
    • 0028019677 scopus 로고
    • The critical region for Angelman syndrome lies between D15S122 and D15S113
    • Greger V, Reis A, Lalande M (1994) The critical region for Angelman syndrome lies between D15S122 and D15S113. Am J Med Genet 53:396-398
    • (1994) Am J Med Genet , vol.53 , pp. 396-398
    • Greger, V.1    Reis, A.2    Lalande, M.3
  • 15
    • 0029870836 scopus 로고    scopus 로고
    • Protein degradation or regulation: Ub the judge
    • Hochstrasser M (1996) Protein degradation or regulation: Ub the judge. Cell 84:813-815
    • (1996) Cell , vol.84 , pp. 813-815
    • Hochstrasser, M.1
  • 16
    • 0027396829 scopus 로고
    • Cloning and expression of the cDNA for E6-AP, a protein that mediates the interaction of the human papillomavirus E6 oncoprotein with p53
    • Huibregtse JM, Scheffner M, Howley PM (1993) Cloning and expression of the cDNA for E6-AP, a protein that mediates the interaction of the human papillomavirus E6 oncoprotein with p53. Mol Cell Biol 13:775-784
    • (1993) Mol Cell Biol , vol.13 , pp. 775-784
    • Huibregtse, J.M.1    Scheffner, M.2    Howley, P.M.3
  • 17
    • 0032192481 scopus 로고    scopus 로고
    • Mutation of the Angelman E3 ubiquitin ligase in mice causes increased cytoplasmic p53 and deficits of contextual learning and long-term potentiation
    • Jiang Y-H, Armstrong D, Albrecht U, Atkins CM, Noebels JL, Eichele G, Sweatt JD, et al (1998) Mutation of the Angelman E3 ubiquitin ligase in mice causes increased cytoplasmic p53 and deficits of contextual learning and long-term potentiation. Neuron 21:799-811
    • (1998) Neuron , vol.21 , pp. 799-811
    • Jiang, Y.-H.1    Armstrong, D.2    Albrecht, U.3    Atkins, C.M.4    Noebels, J.L.5    Eichele, G.6    Sweatt, J.D.7
  • 18
    • 85030074218 scopus 로고    scopus 로고
    • A novel imprinted gene, encoding a RING zinc-finger protein, and overlapping antisense transcript in the Prader-Willi syndrome critical region
    • in press
    • Jong MTC, Gray TA, Ji Y, Glenn CC, Saitoh S, Driscoll DJ, Nicholls RD. A novel imprinted gene, encoding a RING zinc-finger protein, and overlapping antisense transcript in the Prader-Willi syndrome critical region. Hum Mol Genet (in press)
    • Hum Mol Genet
    • Jong, M.T.C.1    Gray, T.A.2    Ji, Y.3    Glenn, C.C.4    Saitoh, S.5    Driscoll, D.J.6    Nicholls, R.D.7
  • 19
    • 0031012849 scopus 로고    scopus 로고
    • UBE3A/E6-AP mutations cause Angelman syndrome
    • Kishino T, Lalande M, Wagstaff J (1997) UBE3A/E6-AP mutations cause Angelman syndrome. Nat Genet 15:70-73
    • (1997) Nat Genet , vol.15 , pp. 70-73
    • Kishino, T.1    Lalande, M.2    Wagstaff, J.3
  • 23
    • 0028908917 scopus 로고
    • Deletions involving D15S113 in a mother and son without Angelman syndrome: Refinement of the Angelman syndrome critical deletion region
    • Michaelis RC, Skinner SA, Lethco BA, Simensen RJ, Donlon TA, Tarleton J, Phelan MC (1995) Deletions involving D15S113 in a mother and son without Angelman syndrome: refinement of the Angelman syndrome critical deletion region. Am J Med Genet 55:120-126
    • (1995) Am J Med Genet , vol.55 , pp. 120-126
    • Michaelis, R.C.1    Skinner, S.A.2    Lethco, B.A.3    Simensen, R.J.4    Donlon, T.A.5    Tarleton, J.6    Phelan, M.C.7
  • 25
    • 0028001537 scopus 로고
    • Familial Angelman syndrome with a crossover in the critical deletion region
    • Nelen MR, Burgt CJ, Nillesen WN, Vis A, Smeets HJ (1994) Familial Angelman syndrome with a crossover in the critical deletion region. Am J Med Genet 52:352-357
    • (1994) Am J Med Genet , vol.52 , pp. 352-357
    • Nelen, M.R.1    Burgt, C.J.2    Nillesen, W.N.3    Vis, A.4    Smeets, H.J.5
  • 26
    • 0032192447 scopus 로고    scopus 로고
    • Strange bedfellows? Protein degradation and neurological dysfunction
    • Nicholls RD (1998) Strange bedfellows? Protein degradation and neurological dysfunction. Neuron 21:647-649
    • (1998) Neuron , vol.21 , pp. 647-649
    • Nicholls, R.D.1
  • 27
    • 0032076307 scopus 로고    scopus 로고
    • Imprinting in Prader-Willi and Angelman syndromes
    • Nicholls RD, Saitoh S, Horsthemke B (1998) Imprinting in Prader-Willi and Angelman syndromes. Trends Genet 14: 194-200
    • (1998) Trends Genet , vol.14 , pp. 194-200
    • Nicholls, R.D.1    Saitoh, S.2    Horsthemke, B.3
  • 29
    • 0028229959 scopus 로고
    • Imprinting mutations suggested by abnormal DNA methylation patterns in familial Angelman and Prader-Willi syndromes
    • Reis A, Dittrich B, Greger V, Buiting K, Lalande M, Gillessen-Kaesbach G, Anvret M, et al (1994) Imprinting mutations suggested by abnormal DNA methylation patterns in familial Angelman and Prader-Willi syndromes. Am J Hum Genet 54:741-747
    • (1994) Am J Hum Genet , vol.54 , pp. 741-747
    • Reis, A.1    Dittrich, B.2    Greger, V.3    Buiting, K.4    Lalande, M.5    Gillessen-Kaesbach, G.6    Anvret, M.7
  • 30
    • 0032067559 scopus 로고    scopus 로고
    • An imprinted antisense RNA overlaps UBE3A and a second maternally expressed transcript
    • Rougeulle C, Cardosa C, Fontes M, Colleaux L, Lalande M (1998) An imprinted antisense RNA overlaps UBE3A and a second maternally expressed transcript. Nat Genet 19: 15-16
    • (1998) Nat Genet , vol.19 , pp. 15-16
    • Rougeulle, C.1    Cardosa, C.2    Fontes, M.3    Colleaux, L.4    Lalande, M.5
  • 31
    • 0031228039 scopus 로고    scopus 로고
    • The Angleman syndrome candidate gene, UBE3A/E6-AP, is imprinted in brain
    • Rougeulle C, Glatt H, Lalande M (1997) The Angleman syndrome candidate gene, UBE3A/E6-AP, is imprinted in brain. Nat Genet 17:14-15
    • (1997) Nat Genet , vol.17 , pp. 14-15
    • Rougeulle, C.1    Glatt, H.2    Lalande, M.3
  • 33
    • 16044365355 scopus 로고    scopus 로고
    • Minimal definition of the imprinting center and fixation of a chromosome 15q11-q13 epigenotype by imprinting mutations
    • Saitoh S, Buiting K, Rogan PK, Buxton JL, Driscoll DJ, Arnemann J, König R, et al (1996) Minimal definition of the imprinting center and fixation of a chromosome 15q11-q13 epigenotype by imprinting mutations. Proc Natl Acad Sci USA 93:7811-7815
    • (1996) Proc Natl Acad Sci USA , vol.93 , pp. 7811-7815
    • Saitoh, S.1    Buiting, K.2    Rogan, P.K.3    Buxton, J.L.4    Driscoll, D.J.5    Arnemann, J.6    König, R.7
  • 35
    • 0028898424 scopus 로고
    • Protein ubiquirination involving an E1-E2-E3 enzyme ubiquitin thioester cascade
    • Scheffner M, Nuber U, Huibregtse J (1995) Protein ubiquirination involving an E1-E2-E3 enzyme ubiquitin thioester cascade. Nature 373:81-83
    • (1995) Nature , vol.373 , pp. 81-83
    • Scheffner, M.1    Nuber, U.2    Huibregtse, J.3
  • 36
    • 0031848147 scopus 로고    scopus 로고
    • Methylation analysis of the PWS/AS region does not support an enhancer-competition model
    • Schumacher A, Buiting K, Zeschnigk M, Doerfler W, Horsthemke B (1998) Methylation analysis of the PWS/AS region does not support an enhancer-competition model. Nat Genet 19:324-325
    • (1998) Nat Genet , vol.19 , pp. 324-325
    • Schumacher, A.1    Buiting, K.2    Zeschnigk, M.3    Doerfler, W.4    Horsthemke, B.5
  • 37
    • 0031882247 scopus 로고    scopus 로고
    • Competitive edge at the imprinted Prader-Willi/Angelman region?
    • Tilghman SM, Caspary T, Ingram RS (1998) Competitive edge at the imprinted Prader-Willi/Angelman region? Nat Genet 18:206-208
    • (1998) Nat Genet , vol.18 , pp. 206-208
    • Tilghman, S.M.1    Caspary, T.2    Ingram, R.S.3
  • 38
    • 0031230614 scopus 로고    scopus 로고
    • Imprinting of the Angelman syndrome gene, UBE3A, is restricted to brain
    • Vu TH, Huffman AR (1997) Imprinting of the Angelman syndrome gene, UBE3A, is restricted to brain. Nat Genet 17: 12-13
    • (1997) Nat Genet , vol.17 , pp. 12-13
    • Vu, T.H.1    Huffman, A.R.2
  • 39
    • 0026893703 scopus 로고
    • Maternal but not paternal transmission of 15q11-13-linked nondeletion Angelman syndrome leads to phenotypic expression
    • Wagstaff J, Knoll JHM, Glatt KA, Shugart YY, Sommer A, Lalande M (1992) Maternal but not paternal transmission of 15q11-13-linked nondeletion Angelman syndrome leads to phenotypic expression. Nat Genet 1:291-294
    • (1992) Nat Genet , vol.1 , pp. 291-294
    • Wagstaff, J.1    Knoll, J.H.M.2    Glatt, K.A.3    Shugart, Y.Y.4    Sommer, A.5    Lalande, M.6
  • 40
    • 0027517157 scopus 로고
    • Linkage analysis in familial Angelman syndrome
    • Wagstaff J, Shugart YY, Lalande M (1993) Linkage analysis in familial Angelman syndrome. Am J Hum Genet 53: 105-112
    • (1993) Am J Hum Genet , vol.53 , pp. 105-112
    • Wagstaff, J.1    Shugart, Y.Y.2    Lalande, M.3
  • 42
    • 0031569842 scopus 로고    scopus 로고
    • The human E6-AP gene (UBE3A) encodes three potential protein isoforms generated by differential splicing
    • Yamamoto Y, Huibregtse JM, Howley PM (1997) The human E6-AP gene (UBE3A) encodes three potential protein isoforms generated by differential splicing. Genomics 41: 263-266
    • (1997) Genomics , vol.41 , pp. 263-266
    • Yamamoto, Y.1    Huibregtse, J.M.2    Howley, P.M.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.